Poems syndrome: report of a rare disease with often neurologic presentation

Abstract

Introduction: Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare monoclonal lambda plasma cell disorder, with multisystem presentation leading to a challenging diagnosis. The aim is to report a case of a rare hematologic disease, with neurologic manifestation widely seen in daily practice. Case report: Male, 35-year-old, with a history of distal weakness of the lower limbs, symmetrical, subacute onset and progressive worsening, associated with ascending numbness, lower back pain and fatigue. Neurological examination showed motor deficit in extremities (plantar flexion and extension), hypoactive reflexes of lower limbs, in addition to distal sensory deficit (tactile and painful). Electroneuromyography confirmed axonal sensory-motor neuropathy in both lower limbs. Biochemical testing revealed a monoclonal gammaglobulin peak with a predominance of lambda chains and an elevated serum vascular endothelial growth factor (VEGF) concentration. Magnetic resonance imaging detected sclerotic lesions in vertebral bodies of thoracic and lumbar spine. Furthermore, patient also had mild pigmentary changes in the skin of the extremities of lower limbs and polycythemia. Accordingly with the evaluation was possible to make POEMS diagnosis and patient is currently in preparation for an autologous bone marrow transplant. Conclusion: Polineuropathy is a neurological hallmark of the disease and should lead to evaluation for POEMS, when associated with a monoclonal protein detected. Elevated serum VEGF can be a biomarker that supports the diagnosis. In summary, early recognition is essential, because enables adequate treatment, which contributes to stop progressive worsening of symptoms, especially debilitating neurologic ones.